Canonical Allele Identifier: CA195544008
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs554757490
gnomAD v2: 9-88700117-T-A
gnomAD v3: 9-86085202-T-A
gnomAD v4: 9-86085202-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86085202T>A , CM000671.2:g.86085202T>A GRCh38
NC_000009.11:g.88700117T>A , CM000671.1:g.88700117T>A GRCh37
NC_000009.10:g.87889937T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5861A>T ENSP00000373363.3:n.-21-5861A>T
ENST00000388712.7:c.-21-5861A>T MANE Select ENSP00000373364.3:n.-21-5861A>T
ENST00000466178.1:c.-141-163A>T ENSP00000418155.1:n.-141-163A>T
ENST00000472919.1:n.150-5861A>T
NM_016548.3:c.-21-5861A>T NP_057632.2:n.-21-5861A>T
NM_177937.2:c.-21-5861A>T NP_808800.1:n.-21-5861A>T
NM_016548.4:c.-21-5861A>T MANE Select NP_057632.2:n.-21-5861A>T
NM_177937.3:c.-21-5861A>T NP_808800.1:n.-21-5861A>T